Linked Data
ClinVar Variation Id:
531764
ClinVar RCV Id:
RCV000638271
dbSNP Id:
rs1554643619
gnomAD v4:
9-6553502-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6553502G>A , CM000671.2:g.6553502G>A | GRCh38 |
| NC_000009.11:g.6553502G>A , CM000671.1:g.6553502G>A | GRCh37 |
| NC_000009.10:g.6543502G>A | NCBI36 |
| NG_016397.1:g.97191C>T , LRG_643:g.97191C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2323C>T MANE Select | ENSP00000370737.4:p.His775Tyr | |
| ENST00000638233.1:n.758C>T | ||
| ENST00000638661.1:c.523C>T | ENSP00000491369.1:p.His175Tyr | |
| ENST00000638694.1:n.510C>T | ||
| ENST00000639318.1:c.523C>T | ENSP00000491932.1:p.His175Tyr | |
| ENST00000639364.1:n.2023C>T | ||
| ENST00000639443.1:n.1891C>T | ||
| ENST00000639639.1:c.25C>T | ENSP00000491312.1:p.His9Tyr | |
| ENST00000639954.1:n.2031C>T | ||
| ENST00000640505.1:n.562C>T | ||
| ENST00000321612.6:c.2323C>T | ENSP00000370737.3:p.His775Tyr | |
| ENST00000467946.1:n.249C>T | ||
| NM_000170.2:c.2323C>T , LRG_643t1:c.2323C>T | NP_000161.2:p.His775Tyr | |
| NM_000170.3:c.2323C>T MANE Select | NP_000161.2:p.His775Tyr |